Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6

ACSL6

90 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in t...

Pfam Domains

AMP-bindingaa 104–520UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 6

HGNC Previous Symbol

FACL6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
3 papers
NM_001009185.3
p.Y110*
c.330C>A
2 papers
NM_001009185.3
p.V56M
c.166G>A
2 papers
NM_001009185.3
p.Y110*
c.330C>G
2 papers
NM_001009185.3
p.V151M
c.451G>A
2 papers
NM_001009185.3
p.P389L
c.1166C>T
2 papers
NM_001009185.3
p.R421H
c.1262G>A
2 papers
NM_001009185.3
p.R604R
c.1812G>A
2 papers
NM_001009185.3
p.T651A
c.1951A>G
1 paper
NM_001009185.3
p.M1_L2insFs
c.3_4insA
1 paper
NM_001009185.3
p.L12L
c.36C>T
1 paper
NM_001009185.3
p.V16V
c.48A>G
1 paper
NM_001009185.3
p.K25Q
c.73A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."